PRKCB, protein kinase C beta, 5579

N. diseases: 317; N. variants: 18
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7404095
rs7404095 		0.827 0.120 16 23853269 intron variant T/C snv 0.58
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 3 2012 2017
dbSNP: rs7404095
rs7404095 		0.827 0.120 16 23853269 intron variant T/C snv 0.58
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs1131692056
rs1131692056 		1.000 0.120 16 23988577 missense variant G/T snv 7.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12921419
rs12921419 		1.000 0.040 16 24078450 intron variant A/G;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12921419
rs12921419 		1.000 0.040 16 24078450 intron variant A/G;T snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs12929627
rs12929627 		1.000 0.040 16 24083656 intron variant G/A;T snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs12929627
rs12929627 		1.000 0.040 16 24083656 intron variant G/A;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs34289708
rs34289708 		1.000 0.040 16 24084053 intron variant T/C snv 1.4E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs34289708
rs34289708 		1.000 0.040 16 24084053 intron variant T/C snv 1.4E-02
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs35526040
rs35526040 		1.000 0.040 16 24082016 intron variant G/T snv 1.4E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs35526040
rs35526040 		1.000 0.040 16 24082016 intron variant G/T snv 1.4E-02
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs395897
rs395897 		16 24151061 intron variant G/C snv 0.36
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs7404095
rs7404095 		0.827 0.120 16 23853269 intron variant T/C snv 0.58
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7404095
rs7404095 		0.827 0.120 16 23853269 intron variant T/C snv 0.58
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7404095
rs7404095 		0.827 0.120 16 23853269 intron variant T/C snv 0.58
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7404095
rs7404095 		0.827 0.120 16 23853269 intron variant T/C snv 0.58
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7404928
rs7404928 		1.000 0.080 16 23877519 intron variant T/C snv 0.21
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs8059889
rs8059889 		16 24216112 3 prime UTR variant G/A snv 1.3E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9928486
rs9928486 		1.000 0.040 16 24076855 intron variant T/C snv 1.4E-02
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs9928486
rs9928486 		1.000 0.040 16 24076855 intron variant T/C snv 1.4E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1466858740
rs1466858740 		1.000 0.040 16 24180881 missense variant G/A snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.700 0
dbSNP: rs764534677
rs764534677 		1.000 0.080 16 24035448 missense variant G/A snv 8.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1460808228
rs1460808228 		0.851 0.040 16 24185518 missense variant T/C snv 7.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1460808228
rs1460808228 		0.851 0.040 16 24185518 missense variant T/C snv 7.0E-06
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1460808228
rs1460808228 		0.851 0.040 16 24185518 missense variant T/C snv 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2014 2014